ClinVar Miner

List of variants studied for hypertrophic cardiomyopathy 6

Included ClinVar conditions (2):
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Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.864+35_864+36insA rs35348247 0.76395
NM_016203.4(PRKAG2):c.*1061G>A rs7429 0.54155
NM_016203.4(PRKAG2):c.*112A>G rs8961 0.54129
NM_016203.4(PRKAG2):c.*522G>T rs1051956 0.53580
NM_016203.4(PRKAG2):c.-26C>T rs66628686 0.14343
NM_016203.4(PRKAG2):c.-90G>T rs76351165 0.05040
NM_016203.4(PRKAG2):c.114+12C>T rs77902041 0.04935
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=) rs28763998 0.03936
NM_016203.4(PRKAG2):c.*452C>T rs17714947 0.03769
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_016203.4(PRKAG2):c.*3G>A rs113234987 0.00973
NM_016203.4(PRKAG2):c.*384C>T rs75418446 0.00847
NM_016203.4(PRKAG2):c.*56G>A rs141781827 0.00626
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_016203.4(PRKAG2):c.*127C>G rs189787963 0.00397
NM_016203.4(PRKAG2):c.*572G>A rs78192883 0.00384
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_016203.4(PRKAG2):c.*964G>A rs75512992 0.00181
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_016203.4(PRKAG2):c.*614A>T rs567058170 0.00160
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_016203.4(PRKAG2):c.*156A>G rs28763997 0.00062
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_016203.4(PRKAG2):c.*135T>C rs184932311 0.00041
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216 0.00035
NM_016203.4(PRKAG2):c.*365G>A rs886062098 0.00034
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala) rs139579816 0.00025
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_016203.4(PRKAG2):c.-249G>C rs534059998 0.00016
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_016203.4(PRKAG2):c.-481G>A rs373697168 0.00012
NM_016203.4(PRKAG2):c.*1030T>G rs867502251 0.00010
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270 0.00010
NM_016203.4(PRKAG2):c.429G>A (p.Ser143=) rs757727533 0.00008
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg) rs751094298 0.00007
NM_016203.4(PRKAG2):c.*55C>T rs371637024 0.00006
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) rs760826751 0.00005
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=) rs761196275 0.00005
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142 0.00005
NM_016203.4(PRKAG2):c.*1043G>A rs1207057314 0.00004
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) rs397517268 0.00004
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu) rs145669999 0.00004
NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu) rs368637364 0.00004
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=) rs201735117 0.00004
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) rs764162597 0.00004
NM_016203.4(PRKAG2):c.*1012T>G rs886062095 0.00003
NM_016203.4(PRKAG2):c.*2C>T rs199559205 0.00003
NM_016203.4(PRKAG2):c.-16A>G rs200468798 0.00003
NM_016203.4(PRKAG2):c.-397G>C rs886062106 0.00003
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=) rs767950372 0.00003
NM_016203.4(PRKAG2):c.*419C>T rs951231157 0.00002
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486 0.00002
NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile) rs778668093 0.00002
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu) rs150140412 0.00002
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=) rs764742900 0.00002
NM_016203.4(PRKAG2):c.433G>A (p.Gly145Arg) rs886062101 0.00002
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln) rs145006140 0.00002
NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln) rs139653890 0.00001
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys) rs758756757 0.00001
NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met) rs760879406 0.00001
NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn) rs199863116 0.00001
NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln) rs730880980 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn) rs186114650 0.00001
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg) rs727504337 0.00001
NM_016203.4(PRKAG2):c.187-3C>T rs972389122 0.00001
NM_016203.4(PRKAG2):c.274C>A (p.Pro92Thr) rs1170556084 0.00001
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu) rs1041124171 0.00001
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg) rs779753891 0.00001
NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala) rs730880975 0.00001
NM_016203.4(PRKAG2):c.88A>C (p.Arg30=) rs756923555 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala) rs775005432 0.00001
NM_016203.4(PRKAG2):c.*1021T>G rs199973452
NM_016203.4(PRKAG2):c.*256T>G rs1803889003
NM_016203.4(PRKAG2):c.*398C>T rs1232386894
NM_016203.4(PRKAG2):c.*399G>A rs112179332
NM_016203.4(PRKAG2):c.*450T>C rs1803859194
NM_016203.4(PRKAG2):c.*471T>C rs1803856114
NM_016203.4(PRKAG2):c.*612G>A rs371404960
NM_016203.4(PRKAG2):c.*771C>T rs1803806831
NM_016203.4(PRKAG2):c.*835T>C rs886062097
NM_016203.4(PRKAG2):c.*887G>A rs886062096
NM_016203.4(PRKAG2):c.*953T>A rs552411344
NM_016203.4(PRKAG2):c.-252C>T rs546312513
NM_016203.4(PRKAG2):c.-262C>T rs886062103
NM_016203.4(PRKAG2):c.-287C>G rs75059373
NM_016203.4(PRKAG2):c.1050_1051insTTA (p.Arg350_Glu351insLeu) rs587776643
NM_016203.4(PRKAG2):c.1073T>A (p.Phe358Tyr) rs2151014616
NM_016203.4(PRKAG2):c.1106+19del rs374874465
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg) rs121908988
NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn) rs28938173
NM_016203.4(PRKAG2):c.1234-2A>G
NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly) rs762111172
NM_016203.4(PRKAG2):c.1372T>G (p.Ser458Ala) rs1554455000
NM_016203.4(PRKAG2):c.1454A>C (p.Lys485Thr) rs1554453641
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) rs267606976
NM_016203.4(PRKAG2):c.1463A>T (p.Asn488Ile) rs121908989
NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu) rs761196275
NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln) rs267606978
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg) rs267606977
NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro) rs267606979
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala) rs199963585
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) rs757900380
NM_016203.4(PRKAG2):c.278T>C (p.Val93Ala) rs2076656944
NM_016203.4(PRKAG2):c.320C>G (p.Pro107Arg)
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu) rs375174733
NM_016203.4(PRKAG2):c.392C>G (p.Ser131Cys)
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp) rs1832796232
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys) rs397517273
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp) rs200392688
NM_016203.4(PRKAG2):c.595G>T (p.Asp199Tyr)
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys) rs397517277
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val) rs543247293
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile) rs397517282
NM_016203.4(PRKAG2):c.90G>T (p.Arg30Ser) rs1268890991
NM_016203.4(PRKAG2):c.947-7G>A rs1554464198

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